HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31270426del , CM000668.2:g.31270426del | GRCh38 |
NC_000006.11:g.31238203del , CM000668.1:g.31238203del | GRCh37 |
NC_000006.10:g.31346182del | NCBI36 |
NG_029422.2:g.6706del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000376228.10:c.679del MANE Select | ENSP00000365402.5:p.Cys227AlafsTer13 | |
ENST00000376228.9:c.679del | ENSP00000365402.5:p.Cys227AlafsTer13 | |
ENST00000376237.8:c.*266del | ENSP00000365412.4:n.*266del | |
ENST00000383329.7:c.679del | ENSP00000372819.3:p.Cys227AlafsTer13 | |
ENST00000415537.1:c.664+13del | ||
ENST00000487245.5:n.1038del | ||
ENST00000495835.1:n.868del | ||
NM_002117.5:c.679del | NP_002108.4:p.Cys227AlafsTer13 | |
NM_002117.6:c.679del MANE Select | NP_002108.4:p.Cys227AlafsTer13 |